Features of c-MYC, RhoH/TTF, PIM1, and PAX5 mutations in NLPHL and cHL
. | Mutation frequency/1000 bp (range) . | . | Deletions/insertions . | . | Single-bp substitutions . | . | Transitions/transversions (ratio; P)* . | . | G>C/A>T (ratio) . | . | RGYW/WRCY (P)* . | . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Locus . | NLPHL . | cHL . | NLPHL . | cHL . | NLPHL . | cHL . | NLPHL . | cHL . | NLPHL . | cHL . | NLPHL . | cHL . | ||||||
| c-MYC | 0.24 (0.20-0.40) | 1.22 (0.40-2.23) | 1/0 | 1/1 | 5 | 22 | 3/2 (1.5) | 15/7 (2.1; .02) | 4/1 (4.0) | 10/12 (0.83) | 2 | 13 (.03) | ||||||
| Exon 1 | 0.58 (0.38-0.77) | 2.21 (0.77-3.84) | 1/0 | 1/1 | 2 | 21 | 2/0 | 14/7 (2.0; .04) | 2/0 | 10/11 (0.91) | 1 | 13 (.04) | ||||||
| Exon 2 | 0.428 | 0.428 | 0/0 | 0/0 | 3 | 1 | 1/2 (0.5) | 1/0 | 2/1 (2.0) | 0/1 | 1 | 0 | ||||||
| RhoH/TTF | 0.902 | 0 | 0/0 | 0 | 2 | 0 | 2/0 | 0/0 | 2/0 | 0/0 | 1 | 0 | ||||||
| PIM1 | 0.661 (0.49-0.99) | 0.991 | 1/0 | 0 | 3 | 2 | 3/0 | 2/0 | 2/1 (2.0) | 2/0 | 2 | 0 | ||||||
| PAX5 | 1.82 (0.58-2.90) | 2.61 (1.16-4.07) | 1/0 | 1/0 | 21 | 8 | 12/9 (1.33) | 6/2 (3.0) | 17/4 (3.2) | 7/1 (1.67) | 9 | 3 | ||||||
| All genes | 1.04 | 1.92 | 3/0 | 2/1 | 31 | 32 | 20/11 (1.82; .017) | 23/9 (2.55; .01) | 25/6 (4.17) | 19/13 (1.46) | 14 | 16 | ||||||
. | Mutation frequency/1000 bp (range) . | . | Deletions/insertions . | . | Single-bp substitutions . | . | Transitions/transversions (ratio; P)* . | . | G>C/A>T (ratio) . | . | RGYW/WRCY (P)* . | . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Locus . | NLPHL . | cHL . | NLPHL . | cHL . | NLPHL . | cHL . | NLPHL . | cHL . | NLPHL . | cHL . | NLPHL . | cHL . | ||||||
| c-MYC | 0.24 (0.20-0.40) | 1.22 (0.40-2.23) | 1/0 | 1/1 | 5 | 22 | 3/2 (1.5) | 15/7 (2.1; .02) | 4/1 (4.0) | 10/12 (0.83) | 2 | 13 (.03) | ||||||
| Exon 1 | 0.58 (0.38-0.77) | 2.21 (0.77-3.84) | 1/0 | 1/1 | 2 | 21 | 2/0 | 14/7 (2.0; .04) | 2/0 | 10/11 (0.91) | 1 | 13 (.04) | ||||||
| Exon 2 | 0.428 | 0.428 | 0/0 | 0/0 | 3 | 1 | 1/2 (0.5) | 1/0 | 2/1 (2.0) | 0/1 | 1 | 0 | ||||||
| RhoH/TTF | 0.902 | 0 | 0/0 | 0 | 2 | 0 | 2/0 | 0/0 | 2/0 | 0/0 | 1 | 0 | ||||||
| PIM1 | 0.661 (0.49-0.99) | 0.991 | 1/0 | 0 | 3 | 2 | 3/0 | 2/0 | 2/1 (2.0) | 2/0 | 2 | 0 | ||||||
| PAX5 | 1.82 (0.58-2.90) | 2.61 (1.16-4.07) | 1/0 | 1/0 | 21 | 8 | 12/9 (1.33) | 6/2 (3.0) | 17/4 (3.2) | 7/1 (1.67) | 9 | 3 | ||||||
| All genes | 1.04 | 1.92 | 3/0 | 2/1 | 31 | 32 | 20/11 (1.82; .017) | 23/9 (2.55; .01) | 25/6 (4.17) | 19/13 (1.46) | 14 | 16 | ||||||
The frequency of mutations within RGYW/WRCY motifs was compared with the frequency of mutations outside RGYW/WRCY motifs by the χ2 goodness-of-fit test.
P values are reported only when significant.